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Genetic testing for inherited phaeochromocytoma and paraganglioma excluding NF1 (R223)

Background information

Hereditary paraganglioma-phaeochromocytoma syndromes are characterised by paragangliomas and phaeochromocytomas which are tumours derived from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis.

Phaeochromocytomas and paragangliomas are rare and usually sporadic. Hereditary cases are characterised by earlier age of onset, malignancy, multiple tumours and family history.

Approximately 30% of all PGL PCC cases are thought to be due to germline pathogenic mutations, with 24-28% of apparently sporadic PCC having a familial basis.

NHSE funded test referrals should meet the relevant NHSE eligibility criteria (pdf).

Testing strategy

Clinically affected probands:

For NHS England funded patients, where R223 analysis is required alongside other cancer panels, then this analysis will all be undertaken in Oxford on a single technical platform

NHSE funded referrals for isolated analysis of R223 will be exported within the GLH, to the West Midlands Regional Genetics Laboratory, in accordance with the funding models

R223.1 - analysis for small variants in the gene panel indicated below

R223.2 - dosage analysis for copy number variants in SDHB, SDHC and SDHD

Individual gene analysis is available to non NHSE referrals where clinically indicated

Genes tested:

Genes analysed are in accordance with the 'green' high evidence of clinical association gene list in panel app:

SDHB, SDHD, VHL, RET, SDHC, SDHA, SDHAF2, TMEM127, MAX, FH, MEN1

Targeted analysis for known / previously reported familial variants:

  • Presymptomatic testing in clinically unaffected family members at risk of inheriting a previously reported familial pathogenic variant (R242)
  • Diagnostic confirmation in individuals at risk of inheriting a previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
  • Segregation studies in affected family members to aid variant interpretation (R375)
  • Prenatal diagnosis is not typically requested

Sample requirements and referral information

Clinical guidance and advice is available to referring consultants from:

Professor Rajesh Thakker, Professor of Medicine
OCDEM, Churchill Hospital

Email: rajesh.thakker@ndm.ox.ac.uk

Requesting specialties:

  • Endocrinology
  • Clinical Genetics

Specimen requirements and referring samples

Price list for non NHSE referrals (pdf)

Last reviewed:02 August 2021